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MAU2-independent loading of cohesin and protective mechanism against early truncating mutations in NIPBL. Homo sapiens strain:HEK293

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NIAID Data Ecosystem2026-03-11 收录
下载链接:
https://www.ncbi.nlm.nih.gov/bioproject/PRJNA574410
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资源简介:
In cells with the predicted fatal out-of-frame single nucleotide duplication c.39dup in NIPBL the use of an alternative translation initiation site yields expression of an N-terminally truncated NIPBL that cannot interact with MAU2 and dramatically reduced MAU2 levels. Remarkably, this protective mechanism allows nearly normal amounts of cohesin to be loaded onto chromatin.
创建时间:
2019-09-26
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